81146-3

CYP3A4 and CYP3A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Active

Part Description

LP207795-8 CYP3A4 & CYP3A5 gene
This testing provides genotypes for CYP3A4 and CYP3A5 and determines the estimated metabolic activity. CYP3A4 and CYP3A5 cytochrome P450 enzymes are involved in the hepatic metabolism of up to 50% of all clinically used drugs. There is wide variation in enzyme activity, particularly for CYP3A4 (10-100 fold), due to both genetic and non-genetic factors. The cause of much of the variation is not yet understood. The CYP3A4 and CYP3A5 enzymes have a high degree of similarity (85% amino acid sequence homology) and they metabolism largely the same set of drugs, Though many use the CYP3A4 pathway predominantly. Genotype and metabolic activity for CYP3A4 and CYP3A5 should therefore be considered together when assessing possible effects on drug response. CYP3A4 *22 decreases enzyme activity, and is present in ~8% of Caucasians. CYP3A5 *3 is a non-functional allele, so CYPA5 *3/*3 homozygotes are non-expressors of CYP3A5. CYP3A5 *3 is the predominant CYP3A5 allele in Caucasians (prevalence of ~92%) and therefore most Caucasians have reduced or absent CYP3A5 metabolism. CYP3A5 *6 and *7 lead to decreased enzyme activity. CYP3A5 *6 and *7 are present in 11-12% of Asians and African Americans, but are essentially absent in Caucasians (frequency of 0.1%). CYP3A4 *22 is typically associated with increased response to statins (lovastatin, simvastatin, and atorvastatin), with lower doses required to gain optimal response. For CYP3A5, poor metabolizers are typically expected to require standard dosing of tacrolimus. Intermediate or extensive metabolizers are expected to require a higher starting dose of tacrolimus. Fentanyl is a key pain medication that is metabolized by CYP3A4/3A5. The CYP3A5 *3 variant has decreased clearance of this active drug. Patients with the CYP3A5 *3/*3 genotype have a higher risk of adverse events than patients with one or two *1 alleles. However, CYP3A genotype and clinical variables (delivery rate, gender, co-medications, kidney disease, BMI and serum albumin) account for less than 50% of the wide variability in serum fentanyl concentration between patients with transdermal fentanyl treatment. Source: LOINC partner 1

LOINC Names Get Info

Fully-Specified Name: CYP3A4 & CYP3A5 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name: CYP3A4 and CYP3A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: CYP3A4 + CYP3A5 gene Mut Anl Bld/T
Display Name: CYP3A4 and CYP3A5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: CYP3A4 and CYP3A5 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

Component
CYP3A4 & CYP3A5 gene targeted mutation analysis
LP228245-9
- Analyte
  CYP3A4 & CYP3A5 gene targeted mutation analysis
  LP228245-9
  - Component Numerator
    CYP3A4 & CYP3A5 gene targeted mutation analysis
    LP228245-9
    - Component Numerator Core
      CYP3A4 & CYP3A5 gene
      LP207795-8
    - Component Numerator Core Suffix
      targeted mutation analysis
      LP32419-1
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Associated Observations

81247-9 Master HL7 genetic variant reporting panel

LOINC	Name	R/O/C	Cardinality	Example UCUM Units
81247-9	Master HL7 genetic variant reporting panel
Indent81306-3	Variables that apply to the overall study
IndentIndent53577-3	Reason for study	O	0..*
IndentIndent51967-8	Genetic disease assessed [ID]	O	0..*
IndentIndent51963-7	Medication assessed [ID]	C	0..*
IndentIndent48018-6	Gene studied [ID]	C	0..*
IndentIndent36908-2	Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal	C	0..*
IndentIndent51959-5	Range(s) of DNA sequence examined	C	0..*
IndentIndent81293-3	Description of ranges of DNA sequences examined	C	0..1
IndentIndent51968-6	Discrete variation analysis overall interpretation	R	1..1
IndentIndent83006-7	Deletion-duplication overall interpretation	C
IndentIndent51969-4	Genetic analysis report	O	0..1
IndentIndent81291-7	Variant ISCN	C
IndentIndent62374-4	Human reference sequence assembly version	C	0..1
IndentIndent81303-0	HGVS version [ID]	O	0..1
IndentIndent82115-7	dbSNP version [ID]	O	0..1
IndentIndent83007-5	COSMIC version [ID]	O
IndentIndent83008-3	ClinVar version [ID]	O
Indent81250-3	Discrete genetic variant panel		0..n
IndentIndent83005-9	Variant category
IndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndent48019-4	DNA change type	O	0..1
IndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndent81304-8	Variant analysis method [Type]	O
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent69548-6	Genetic variant assessment	O
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53034-5	Allelic state	C	0..1
IndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndent82120-7	Allelic phase	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
Indent81297-4	Structural variant panel
IndentIndent82155-3	Genomic structural variant copy number			{#}
IndentIndent81299-0	Structural variant reported arrCGH [Ratio]	C	0..1	{Ratio}
IndentIndent81300-6	Structural variant [Length]	O	0..1	{#}
IndentIndent81301-4	Structural variant outer start and end	O	0..1	{Range}
IndentIndent81302-2	Structural variant inner start and end	O	0..1	{Range}
Indent81251-1	Complex genetic variant panel		0..n
IndentIndent81260-2	Complex genetic variant [ID]	C	0..1
IndentIndent81262-8	Complex variant HGVS name	C	0..1
IndentIndent81263-6	Complex variant type	C	0..1
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent53034-5	Allelic state	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O
Indent82118-1	Pharmacogenomics result panel
IndentIndent48018-6	Gene studied [ID]		1..*
IndentIndent84413-4	Genotype display name
IndentIndent53040-2	Genetic variation's effect on drug metabolism	C	0..1
IndentIndent51961-1	Genetic variation's effect on drug efficacy	C	0..1
IndentIndent83009-1	Genetic variation's effect on high-risk allele
IndentIndent82117-3	Medication usage implications panel	O	0..*
IndentIndentIndent51963-7	Medication assessed [ID]	R	1..*
IndentIndentIndent82116-5	Medication usage suggestion [Type]	C	1..1
IndentIndentIndent83010-9	Medication usage suggestion [Narrative]	C
Indent83011-7	Haplotype definition panel
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O

Basic Attributes

Class: MOLPATH.PHARMG
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.73 (MIN)
Change Reason: Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
Order vs. Observation: Both
Common Test Rank Get Info: 18006

Member of these Panels

LOINC	Long Common Name
81642-1	CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen CYP3A4 & CYP3A5 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
de-AT	German (Austria)	Synonyms: CYP3A4/A5 Genotypisierung
el-GR	Greek (Greece)	Γονίδιο CYP3A4 & CYP3A5 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.PHARMG Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CYP3A4 & CYP3A5 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen CYP3A4 y CYP3A5 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CYP3A4 y CYP3A5:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	CYP3A4 et CYP3A5 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	CYP3A4 & CYP3A5, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Farmacogenomica Gene CYP3A4 e CYP3A5 Gene CYP3A5 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CYP3A4 & CYP3A5-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: CYP3A4 & CYP3A5 gen molgen targeted
pl-PL	Polish (Poland)	CYP3A4 & CYP3A5 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna Synonyms: Analiza mutacji genów CYP3A4 i CYP3A5 diagnostyka molekularna Geny CYP3A4 i CYP3A5
zh-CN	Chinese (China)	CYP3A4 与 CYP3A5 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: EC 1.14.14.1;细胞色素 P450 家族 3 亚家族 A 成员 5;细胞色素 P450, 亚家族 IIIA (硝苯吡啶氧化酶), 多肽 5;细胞色素 P450, 家族 3, 亚家族 A, 多肽 5;细胞色素 P450 HLp2;细胞色素 P450-PCN3;Cytochrome P450 Family 3 Subfamily A Member 5;Cytochrome P450, Subfamily IIIA (Niphedipine Oxidase), Polypeptide 5 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;血液/组织;血液或组织分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片细胞色素 P450, 家族 3, 亚家族 A, 多肽 4;cytochrome P450, family 3, subfamily A, polypeptide 4;细胞色素 P450, 家族 3, 亚家族 A, 多肽 5;cytochrome P450, family 3, subfamily A, polypeptide 5 血;血液遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81146-3

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.